Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome whose hallmark lesions are benign lipomas of the brain and spinal cord. The authors present a case of a male infant with ECCL who had extensive brainstem and spinal cord lipomas. The management of this patient's hydrocephalus, cervicomedullary compression, tethered cord, and scoliosis over the course of his first 2 years of life is described. This case report and review of the literature is presented to provide a synopsis of the problems likely to be encountered by neurosurgeons who treat patients with this syndrome.
Robert E. Ayer and Alexander Zouros
Case report and review of the literature
Thomas Psarros, Alexander Zouros and Caetano Coimbra
✓ A 26-year-old woman with obstructive hydrocephalus caused by a cysticercal cyst blocking the left foramen of Monro was initially treated with an external ventriculostomy and subsequent endoscopically assisted cyst resection and septostomy. Postoperatively, the patient developed the clinical syndrome of akinetic mutism, but her condition improved after the administration of the dopaminergic agonist bromocriptine. This result indicates that a disruption in the ascending dopaminergic pathway involved in behavior formation was likely the cause of these neurological symptoms.
Joffre E. Olaya, Michelle Ghostine, Mark Rowe and Alexander Zouros
Cerebellopontine angle arachnoid cysts are usually asymptomatic, but are frequently found incidentally because of increased use of neuroimaging. Nevertheless, as these cysts enlarge, they may compress surrounding structures and cause neurological symptoms. Patients may present with vague, nonspecific symptoms such as headache, nausea, vomiting, and vertigo. Cranial nerve palsies, including sensorineural hearing loss and facial weakness, although rare, have also been reported in association with posterior fossa arachnoid cysts. Although surgery for these entities is controversial, arachnoid cysts can be treated surgically with open craniotomy for cyst removal, fenestration into adjacent arachnoid spaces, shunting of cyst contents, or endoscopic fenestration. Reversal of sensorineural hearing loss following open craniotomy treatment has been described in the literature in only 1 adult and 1 pediatric case. Improvement in facial weakness has also been reported after open craniotomy and arachnoid cyst fenestration. The authors report the first case of complete recovery from sensorineural hearing loss and facial weakness following endoscopic fenestration in a patient with a cerebellopontine angle arachnoid cyst.
Mahmoud Messerer, Julie Dubourg and Abderrhamane Hamlat
Joseph R. Keen, Allison Przekop, Joffre E. Olaya, Alexander Zouros and Frank P. K. Hsu
Deep brain stimulation (DBS) for dystonic cerebral palsy (CP) has rarely been reported, and its efficacy, though modest when compared with that for primary dystonia, remains unclear, especially in the pediatric population. The authors present a small series of children with dystonic CP who underwent bilateral pallidal DBS, to evaluate the treatment's efficacy and safety in the pediatric dystonic CP population.
The authors conducted a retrospective review of patients (under the age of 18 years) with dystonic CP who had undergone DBS of the bilateral globus pallidus internus between 2010 and 2012. Two of the authors independently assessed outcomes using the Barry-Albright Dystonia Scale (BADS) and the Burke-Fahn-Marsden Dystonia Rating Scale–movement (BFMDRS-M).
Five children were diagnosed with dystonic CP due to insults occurring before the age of 1 year. Mean age at surgery was 11 years (range 8–17 years), and the mean follow-up was 26.6 months (range 2–42 months). The mean target position was 20.6 mm lateral to the midcommissural point. The mean preoperative and postoperative BADS scores were 23.8 ± 4.9 (range 18.5–29.0) and 20.0 ± 5.5 (range 14.5–28.0), respectively, with a mean overall percent improvement of 16.0% (p = 0.14). The mean preoperative and postoperative BFMDRS-M scores were 73.3 ± 26.6 (range 38.5–102.0) and 52.4 ± 21.5 (range 34.0–80.0), respectively, with a mean overall percent improvement of 28.5% (p = 0.10). Those stimulated at least 23 months (4 patients) improved 18.3% (p = 0.14) on the BADS and 30.5% (p = 0.07) on the BFMDRS-M. The percentage improvement per body region yielded conflicting results between rating scales; however, BFMDRS-M scores for speech showed some of the greatest improvements. Two patients required hardware removal (1 complete system, 1 unilateral electrode) within 4 months after implantation because of infections that resolved with antibiotics.
All postoperative dystonia rating scale scores improved with pallidal stimulation, and the greatest improvements occurred in those stimulated the longest. The results were modest but comparable to findings in other similar series. Deep brain stimulation remains a viable treatment option for childhood dystonic CP, although young children may have an increased risk of infection. Of particular note, improvements in the BFMDRS-M subscores for speech were comparable to those for other muscle groups, a finding not previously reported.
Joffre E. Olaya, Ravi Raghavan, Laura Totaro and Alexander Zouros
Pineal tumors are rare neoplasms that are categorized into pineoblastomas, pineocytomas, and pineal parenchymal tumors of intermediate differentiation. Pineal anlage tumors are primary pineal tumors with neuroepithelial and ectomesenchymal differentiation and without endodermal differentiation. The authors review the literature and report the case of a 5-month-old boy with a pineal anlage tumor. This is only the sixth case of a pineal anlage tumor reported in the English-language literature adding to the understanding of this tumor's presentation, immunomorphological and molecular characteristics, embryological origin, radiological appearance, treatment outcome, and prognosis.
Report of five cases
Alexander Zouros, Ravi Bhargava, Michael Hoskinson and Keith E. Aronyk
✓ Bilateral convexity and interhemispheric subdural hematomas are common neuroimaging patterns seen in infants who have sustained nonaccidental head injuries (NAHIs). These collections often appear aschronic or acute-on-chronic on computerized tomography (CT) studies. To determine the nature of these extraaxial fluid collections and their relationship to cerebrospinal fluid (CSF) dynamics, the authors studied five infants with suspected NAHI in whom symptomatic bilateral mixed- or low-density subdural collections were revealed on imaging studies; the patients underwent burr hole evacuation of the hematoma and external drainage. Once decompression was achieved, radiotracer was injected into the lumbar subarachnoid space, and the subdural drainage system was monitored for appearance of the isotope. In all five cases, the radiotracer moved rapidly from the lumbar subarachnoid space into the convexity subdural space and then into the external drainage system. This indicated the possibility that some of these mixed-density subdural collections were acute blood mixed with CSF rather than acute-on-chronic collections arising from rebleeding subdural membranes. The authors propose that, during infancy, tears in the loosely adherent arachnoid envelope at the main arachnoid granulation site along the superior sagittal sinus may result in a considerable amount of CSF mixing with acute blood in the subdural space, creating a hematohygroma.
Shokei Yamada, Daniel J. Won, Gholam Pezeshkpour, Brian S. Yamada, Shoko M. Yamada, Javed Siddiqi, Alexander Zouros and Austin R. T. Colohan
✓Tethered cord syndrome (TCS) is a stretch-induced functional disorder of the spinal cord due to the fact that its caudal portion is anchored by an inelastic structure. The functional lesion of TCS is generally situated in the lumbosacral cord, and many authors have shown that the syndrome is reversible via surgery to untether the cord. To clarify the expressions relevant to TCS, such as “cord tethering” and “tethered cord,” the authors have formulated three categories. These categories include cases that show the anatomical appearance of spinal cord stretching. Among them, Category 1 is isolated to represent the “true TCS.”
The authors focus their discussion of the pathophysiology of TCS on Category 1 to explain the impaired oxidative metabolism and electrophysiological derangements within the tethered spinal cord, which is the primary intrinsic cause of the dysfunction. Furthermore, they extend the discussion to the extrinsic (outside the spinal cord) factors and other complex conditions that mimic TCS.